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dc.contributor.authorBasson, MA
dc.date.accessioned2024-05-07T09:59:04Z
dc.date.issued2024-01-30
dc.date.updated2024-05-03T16:09:41Z
dc.description.abstractHeterozygous, de novo, loss-of-function variants of the CHD8 gene are associated with a high penetrance of autism and other neurodevelopmental phenotypes. Identifying the neurodevelopmental functions of high-confidence autism risk genes like CHD8 may improve our understanding of the neurodevelopmental mechanisms that underlie autism spectrum disorders. Over the last decade, a complex picture of pleiotropic CHD8 functions and mechanisms of action has emerged. Multiple brain and non-brain cell types and progenitors appear to be affected by CHD8 haploinsufficiency. Behavioural, cellular and synaptic phenotypes are dependent on the nature of the gene mutation and are modified by sex and genetic background. Here, I review some of the CHD8-interacting proteins and molecular mechanisms identified to date, as well as the impacts of CHD8 deficiency on cellular processes relevant to neurodevelopment. I endeavour to highlight some of the critical questions that still require careful and concerted attention over the next decade to bring us closer to the goal of understanding the salient mechanisms whereby CHD8 deficiency causes neurodevelopmental disorders.en_GB
dc.description.sponsorshipMedical Research Council (MRC)en_GB
dc.format.extent15-27
dc.identifier.citationVol. 52(1), pp. 15-27en_GB
dc.identifier.doihttps://doi.org/10.1042/BST20220926
dc.identifier.grantnumberMR/Y008170/1en_GB
dc.identifier.grantnumberMR/X010481/1en_GB
dc.identifier.grantnumberMR/V013173/1en_GB
dc.identifier.urihttp://hdl.handle.net/10871/135887
dc.language.isoenen_GB
dc.publisherPortland Press / Biochemical Societyen_GB
dc.relation.urlhttps://www.ncbi.nlm.nih.gov/pubmed/38288845en_GB
dc.rights© 2024 The Author(s). This is an open access article published by Portland Press Limited on behalf of the Biochemical Society and distributed under the Creative Commons Attribution License 4.0 (CC BY).en_GB
dc.subjectCHD8en_GB
dc.subjectautismen_GB
dc.subjectchromatinen_GB
dc.subjectintellectual disabilityen_GB
dc.subjectneurodevelopmental disordersen_GB
dc.titleNeurodevelopmental functions of CHD8: new insights and questionsen_GB
dc.typeArticleen_GB
dc.date.available2024-05-07T09:59:04Z
dc.identifier.issn0300-5127
exeter.place-of-publicationEngland
dc.descriptionThis is the final version. Available on open access from Portland Press via the DOI in this recorden_GB
dc.identifier.eissn1470-8752
dc.identifier.journalBiochemical Society Transactionsen_GB
dc.rights.urihttps://creativecommons.org/licenses/by/4.0/en_GB
dcterms.dateAccepted2024-01-05
dc.rights.licenseCC BY
rioxxterms.versionVoRen_GB
rioxxterms.licenseref.startdate2024-01-30
rioxxterms.typeJournal Article/Reviewen_GB
refterms.dateFCD2024-05-07T09:16:46Z
refterms.versionFCDVoR
refterms.dateFOA2024-05-07T09:59:13Z
refterms.panelAen_GB
refterms.dateFirstOnline2024-01-30


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© 2024 The Author(s). This is an open access article published by Portland Press Limited on behalf of the Biochemical Society and distributed under the Creative Commons Attribution License 4.0 (CC BY).
Except where otherwise noted, this item's licence is described as © 2024 The Author(s). This is an open access article published by Portland Press Limited on behalf of the Biochemical Society and distributed under the Creative Commons Attribution License 4.0 (CC BY).